This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative spl... See more...

Aliases for GBA Gene

Aliases for GBA Gene

  • Glucosylceramidase Beta 2 3 5
  • D-Glucosyl-N-Acylsphingosine Glucohydrolase 3 4
  • Lysosomal Acid Glucosylceramidase 3 4
  • Cholesterol Glucosyltransferase 3 4
  • Cholesteryl-Beta-Glucosidase 3 4
  • Glucosidase, Beta, Acid 2 3
  • Beta-Glucocerebrosidase 3 4
  • Acid Beta-Glucosidase 3 4
  • Lysosomal Acid GCase 3 4
  • Imiglucerase 3 4
  • Alglucerase 3 4
  • EC 3.2.1.45 4 50
  • Beta-GC 3 4
  • SGTase 3 4
  • GBA1 2 3
  • GLUC 3 4
  • Glucosidase, Beta; Acid (Includes Glucosylceramidase) 2
  • Glucosylceramidase-Like Protein 3
  • Lysosomal Glucocerebrosidase 3
  • Glucosylceramidase 2
  • EC 2.4.1.- 4
  • EC 3.2.1.- 4
  • GCB 3
  • GBA 5
  • GC 4

External Ids for GBA Gene

Previous HGNC Symbols for GBA Gene

  • GLUC

Previous GeneCards Identifiers for GBA Gene

  • GC01P152907
  • GC01M150944
  • GC01M151962
  • GC01M152421
  • GC01M152017
  • GC01M153470
  • GC01M155204
  • GC01M126557

Summaries for GBA Gene

Entrez Gene Summary for GBA Gene

  • This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

GeneCards Summary for GBA Gene

GBA (Glucosylceramidase Beta) is a Protein Coding gene. Diseases associated with GBA include Gaucher Disease, Type I and Gaucher Disease, Type Ii. Among its related pathways are Sphingolipid metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and glucosylceramidase activity.

UniProtKB/Swiss-Prot Summary for GBA Gene

  • Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208, PubMed:15916907). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).

Tocris Summary for GBA Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for GBA Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBA Gene

Genomics for GBA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GBA Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBA

Top Transcription factor binding sites by QIAGEN in the GBA gene promoter:
  • Arnt
  • Bach2
  • c-Myc
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9

Genomic Locations for GBA Gene

Latest Assembly
chr1:155,234,452-155,244,699
(GRCh38/hg38)
Size:
10,248 bases
Orientation:
Minus strand

Previous Assembly
chr1:155,204,243-155,214,418
(GRCh37/hg19 by Entrez Gene)
Size:
10,176 bases
Orientation:
Minus strand

chr1:155,204,243-155,214,490
(GRCh37/hg19 by Ensembl)
Size:
10,248 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr1(ALT_REF_LOCI_1):39,475-49,650 (-)

Genomic View for GBA Gene

Genes around GBA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBA Gene

Proteins for GBA Gene

  • Protein details for GBA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04062-GLCM_HUMAN
    Recommended name:
    Lysosomal acid glucosylceramidase
    Protein Accession:
    P04062
    Secondary Accessions:
    • A8K796
    • B7Z5G2
    • B7Z6S1
    • J3KQG4
    • J3KQK9
    • Q16545
    • Q4VX22
    • Q6I9R6
    • Q9UMJ8

    Protein attributes for GBA Gene

    Size:
    536 amino acids
    Molecular mass:
    59716 Da
    Quaternary structure:
    • Interacts with saposin-C (PubMed:10781797). Interacts with SCARB2 (PubMed:18022370). Interacts with TCP1 (PubMed:21098288). May interact with SNCA; may inhibit the glucosylceramidase activity (PubMed:23266198). Interacts with GRN; this interaction prevents aggregation of GBA-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271).
    Miscellaneous:
    • [Isoform Long]: Major isoform.
    • [Isoform Short]: Produced by alternative initiation from a downstream AUG. Two to three times less protein is produced from this downstream AUG.
    • [Isoform 3]: Produced by alternative splicing.

    Three dimensional structures from OCA and Proteopedia for GBA Gene

    Alternative splice isoforms for GBA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBA Gene

Selected DME Specific Peptides for GBA Gene

P04062:
  • GWTDWNLALNPEGGPNWVRNFVDSPIIVDI
  • PDGSAVVVVLNRSS
  • DPEAAKYVHGIAVHWY
  • PKSFGYSSVVCVCN
  • NLLLKSYFSEEGI
  • ASPWTSPTWLKTNGAVNGKG
  • YSIHTYLW
  • KFQKVKGFGGAMTDA
  • LLMLDDQRLLLP
  • VNGKGSLKGQPGDI
  • FYKQPMFYHLGHFSKFIPEGSQRV
  • GFLETISP
  • PALGTFSRYESTR
  • ESTRSGRRMELS
  • GLLLTLQP
  • YTYADTP
  • YFVKFLDAYA
  • FWAVTAENEP

Post-translational modifications for GBA Gene

  • Glycosylation at Asn98, Asn185, Asn58, Asn309, and Asn501
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Domains & Families for GBA Gene

Gene Families for GBA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GBA Gene

InterPro:
Blocks:
  • Glycosyl hydrolase family 30 signature

Suggested Antigen Peptide Sequences for GBA Gene

GenScript: Design optimal peptide antigens:
  • Glucosidase, beta (D3DV87_HUMAN)
  • Imiglucerase (GLCM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04062

UniProtKB/Swiss-Prot:

GLCM_HUMAN :
  • Belongs to the glycosyl hydrolase 30 family.
Family:
  • Belongs to the glycosyl hydrolase 30 family.
genes like me logo Genes that share domains with GBA: view

Function for GBA Gene

Molecular function for GBA Gene

UniProtKB/Swiss-Prot Function:
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose (PubMed:9201993, PubMed:24211208, PubMed:15916907). Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Also plays a role in cholesterol metabolism (PubMed:24211208, PubMed:26724485). May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol (PubMed:24211208, PubMed:26724485). The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide (PubMed:26724485). Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol (PubMed:24211208, PubMed:26724485).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-glucose; Xref=Rhea:RHEA:13269, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:22801, ChEBI:CHEBI:52639; EC=3.2.1.45; Evidence={ECO:0000269|PubMed:15916907, ECO:0000269|PubMed:16293621, ECO:0000269|PubMed:24211208, ECO:0000269|PubMed:9201993};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesteryl 3-beta-D-glucoside + H2O = cholesterol + D-glucose; Xref=Rhea:RHEA:11956, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495; Evidence={ECO:0000269|PubMed:24211208};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + cholesterol = an N-acylsphing-4-enine + cholesteryl 3-beta-D-glucoside; Xref=Rhea:RHEA:58264, ChEBI:CHEBI:16113, ChEBI:CHEBI:17495, ChEBI:CHEBI:22801, ChEBI:CHEBI:52639; Evidence={ECO:0000269|PubMed:24211208, ECO:0000269|PubMed:26724485};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 5.3. {ECO:0000269|PubMed:24211208}; Temperature dependence: Optimum temperature is 43 degrees Celsius. {ECO:0000269|PubMed:24211208};
UniProtKB/Swiss-Prot EnzymeRegulation:
Synergistically activated by saposin-A and saposin-C, two saposin peptides produced by proteolytic processing of prosaposin/PSAP (PubMed:9201993). Saposin-C activates GBA through its recruitment to membranes (PubMed:10781797, PubMed:9201993). The membrane structure and composition in anionic phospholipids are also important for the activition (PubMed:9201993, PubMed:10781797). Activated by PKC in the salvage pathway of ceramide formation (PubMed:19279011). Inhibited by conduritol B epoxide/CBE (PubMed:24211208, PubMed:26724485).
GENATLAS Biochemistry:
glucosidase,beta,acid,55.6kDa,lysosomal hydrolyzing glucosylceramide,penultimate intermediate in the degradative pathway of complex glycolipids

Enzyme Numbers (IUBMB) for GBA Gene

Phenotypes From GWAS Catalog for GBA Gene

Gene Ontology (GO) - Molecular Function for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004348 glucosylceramidase activity IBA,IMP 15916907
GO:0005102 signaling receptor binding ISS 18022370
GO:0005124 scavenger receptor binding IPI 25202012
GO:0005515 protein binding IPI 21098288
GO:0008422 beta-glucosidase activity IEA --
genes like me logo Genes that share ontologies with GBA: view
genes like me logo Genes that share phenotypes with GBA: view

Human Phenotype Ontology for GBA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GBA Gene

MGI Knock Outs for GBA:
  • Gba Gba<tm2Karl>
  • Gba Gba<tm1.1Clk>
  • Gba Gba<tm1.1Karl>
  • Gba Gba<tm1.2Pmis>
  • Gba Gba<tm1Nsb>
  • Gba Gba<tm2Rlp>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBA

Clone products for research

No data available for Transcription Factor Targets and HOMER Transcription for GBA Gene

Localization for GBA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBA Gene

Lysosome membrane. Peripheral membrane protein. Lumenal side. Note=Interaction with saposin-C promotes membrane association (PubMed:10781797). Targeting to lysosomes occurs through an alternative MPR-independent mechanism via SCARB2 (PubMed:18022370). {ECO:0000269 PubMed:10781797, ECO:0000269 PubMed:18022370}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBA gene
Compartment Confidence
lysosome 5
extracellular 4
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005764 lysosome IMP 25202012
GO:0005765 lysosomal membrane ISS,TAS --
GO:0005783 endoplasmic reticulum ISS --
GO:0005794 Golgi apparatus ISS --
genes like me logo Genes that share ontologies with GBA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GBA Gene

Pathways & Interactions for GBA Gene

genes like me logo Genes that share pathways with GBA: view

UniProtKB/Swiss-Prot P04062-GLCM_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism.
  • Pathway: Sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for GBA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006678 glucosylceramide metabolic process IEA --
GO:0006680 glucosylceramide catabolic process IBA,IMP 19279011
GO:0006687 glycosphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with GBA: view

No data available for SIGNOR curated interactions for GBA Gene

Drugs & Compounds for GBA Gene

(66) Drugs for GBA Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
velaglucerase alfa Approved, Investigational Pharma Target 0
Clotrimazole Approved, Vet_approved Pharma 3164
Methylprednisolone Approved, Vet_approved Pharma Apoptosis inducer,GR agonist, Glucocorticoid receptor agonist 1686
Methylprednisolone hemisuccinate Approved Pharma 1686
Miconazole Approved, Investigational, Vet_approved Pharma 3164

(128) Additional Compounds for GBA Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3-O-Sulphogalactosylceramide (D18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide

(5) Tocris Compounds for GBA Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
genes like me logo Genes that share compounds with GBA: view

Transcripts for GBA Gene

mRNA/cDNA for GBA Gene

7 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBA

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for GBA Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - -
SP9: - - - -
SP10: - -
SP11: - -
SP12:
SP13: - -
SP14:

Relevant External Links for GBA Gene

GeneLoc Exon Structure for
GBA

Expression for GBA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GBA Gene

mRNA differential expression in normal tissues according to GTEx for GBA Gene

This gene is overexpressed in Whole Blood (x6.3).

Protein differential expression in normal tissues from HIPED for GBA Gene

This gene is overexpressed in Bone (23.6) and Bone marrow stromal cell (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GBA Gene



Protein tissue co-expression partners for GBA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBA

SOURCE GeneReport for Unigene cluster for GBA Gene:

Hs.282997

Evidence on tissue expression from TISSUES for GBA Gene

  • Skin(4.8)
  • Nervous system(4.8)
  • Liver(4.6)
  • Blood(3.8)
  • Kidney(3.5)
  • Bone marrow(2.7)
  • Spleen(2.7)
  • Intestine(2.7)
  • Lung(2.6)
  • Muscle(2.5)
  • Heart(2.5)
  • Lymph node(2.3)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Pancreas(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GBA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tongue
Thorax:
  • aorta
  • bronchus
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • placenta
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GBA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for GBA Gene

Orthologs for GBA Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GBA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GBA 29 30
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GBA 29 30
  • 88.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GBA 29 30
  • 87.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gba 29
  • 85.11 (n)
Mouse
(Mus musculus)
Mammalia Gba 29 16 30
  • 84.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GBA 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101748171 29
  • 69.22 (n)
-- 30
  • 58 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
-- 30
  • 55 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 61 (a)
OneToMany
-- 30
  • 54 (a)
OneToMany
-- 30
  • 53 (a)
OneToMany
-- 30
  • 51 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.29001 29
Zebrafish
(Danio rerio)
Actinopterygii gba 29 30
  • 61.54 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9605 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG31414 30
  • 31 (a)
OneToMany
CG31148 30
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea gba-4 29 30
  • 48.72 (n)
OneToMany
Y4C6B.6 31
  • 42 (a)
gba-3 30
  • 41 (a)
OneToMany
C33C12.3 31
  • 40 (a)
C33C12.8 31
  • 38 (a)
gba-1 30
  • 36 (a)
OneToMany
gba-2 30
  • 35 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU04395 29
  • 42.7 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.912 29
Species where no ortholog for GBA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for GBA Gene

ENSEMBL:
Gene Tree for GBA (if available)
TreeFam:
Gene Tree for GBA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GBA: view image
Alliance of Genome Resources:
Additional Orthologs for GBA

Paralogs for GBA Gene

Pseudogenes.org Pseudogenes for GBA Gene

genes like me logo Genes that share paralogs with GBA: view

No data available for Paralogs for GBA Gene

Variants for GBA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBA Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1012742 Uncertain Significance: not provided 155,239,994(-) G/C
NM_000157.4(GBA):c.199C>G (p.Pro67Ala)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1028106 Uncertain Significance: Gaucher disease, perinatal lethal 155,240,048(-) C/T
NM_000157.4(GBA):c.145G>A (p.Gly49Ser)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1029994 Pathogenic: Gaucher disease, perinatal lethal 155,235,680(-) C/T
NM_000157.4(GBA):c.1388+1G>A
SPLICE_DONOR
869105 Pathogenic: Gaucher's disease, type 1 155,238,547(-) GA/G
NM_000157.4(GBA):c.557del (p.Phe186fs)
FRAMESHIFT
871646 Likely Pathogenic: not provided 155,238,620(-) A/T
NM_000157.4(GBA):c.485T>A (p.Met162Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GBA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GBA Gene

Variant ID Type Subtype PubMed ID
dgv107e212 CNV gain 25503493
dgv3n68 CNV loss 17160897
dgv55e214 CNV gain 21293372
esv2421617 CNV duplication 20811451
esv2758971 CNV gain 17122850
esv28935 CNV gain 19812545
esv3578198 CNV loss 25503493
esv3587619 CNV loss 21293372
nsv1008748 CNV loss 25217958
nsv1011773 CNV gain 25217958
nsv1161687 CNV deletion 26073780
nsv2999 CNV insertion 18451855
nsv436038 CNV insertion 17901297
nsv470741 CNV loss 18288195
nsv547963 CNV loss 21841781
nsv8469 CNV gain 18304495
nsv8480 CNV gain 18304495
nsv946412 CNV duplication 23825009
nsv952213 CNV deletion 24416366

Variation tolerance for GBA Gene

Residual Variation Intolerance Score: 31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBA Gene

Human Gene Mutation Database (HGMD)
GBA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBA
Leiden Open Variation Database (LOVD)
GBA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBA Gene

Disorders for GBA Gene

MalaCards: The human disease database

(73) MalaCards diseases for GBA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GBA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLCM_HUMAN
  • Gaucher disease (GD) [MIM:230800]: A lysosomal storage disease due to deficient activity of beta-glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. {ECO:0000269 PubMed:10352942, ECO:0000269 PubMed:10360404, ECO:0000269 PubMed:10447266, ECO:0000269 PubMed:10744424, ECO:0000269 PubMed:10796875, ECO:0000269 PubMed:11933202, ECO:0000269 PubMed:11992489, ECO:0000269 PubMed:12204005, ECO:0000269 PubMed:15292921, ECO:0000269 PubMed:15826241, ECO:0000269 PubMed:15916907, ECO:0000269 PubMed:16293621, ECO:0000269 PubMed:17620502, ECO:0000269 PubMed:18332251, ECO:0000269 PubMed:1864608, ECO:0000269 PubMed:1972019, ECO:0000269 PubMed:1974409, ECO:0000269 PubMed:19846850, ECO:0000269 PubMed:7475546, ECO:0000269 PubMed:7627184, ECO:0000269 PubMed:7627192, ECO:0000269 PubMed:7916532, ECO:0000269 PubMed:8076951, ECO:0000269 PubMed:8112750, ECO:0000269 PubMed:8294033, ECO:0000269 PubMed:8432537, ECO:0000269 PubMed:8790604, ECO:0000269 PubMed:8829654, ECO:0000269 PubMed:8829663, ECO:0000269 PubMed:8937765, ECO:0000269 PubMed:9061570, ECO:0000269 PubMed:9153297, ECO:0000269 PubMed:9182788, ECO:0000269 PubMed:9217217, ECO:0000269 PubMed:9516376, ECO:0000269 PubMed:9554454, ECO:0000269 PubMed:9554746, ECO:0000269 PubMed:9650766, ECO:0000269 PubMed:9683600}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gaucher disease 1 (GD1) [MIM:230800]: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. {ECO:0000269 PubMed:10206680, ECO:0000269 PubMed:10340647, ECO:0000269 PubMed:15605411, ECO:0000269 PubMed:21098288, ECO:0000269 PubMed:22658918, ECO:0000269 PubMed:24022302, ECO:0000269 PubMed:24434810, ECO:0000269 PubMed:24577513, ECO:0000269 PubMed:8889591, ECO:0000269 Ref.14}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gaucher disease 2 (GD2) [MIM:230900]: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age. {ECO:0000269 PubMed:10796875, ECO:0000269 PubMed:16293621, ECO:0000269 PubMed:21098288, ECO:0000269 PubMed:24022302, ECO:0000269 PubMed:7627192, ECO:0000269 PubMed:9279145, ECO:0000269 PubMed:9554454, ECO:0000269 PubMed:9637431, ECO:0000269 PubMed:9851895}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gaucher disease 3 (GD3) [MIM:231000]: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2. {ECO:0000269 PubMed:11933202, ECO:0000269 PubMed:24022302, ECO:0000269 PubMed:8780099}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gaucher disease 3C (GD3C) [MIM:231005]: A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications. {ECO:0000269 PubMed:9040001}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Gaucher disease perinatal lethal (GDPL) [MIM:608013]: Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. {ECO:0000269 PubMed:10352942, ECO:0000269 PubMed:11933202}. Note=The disease is caused by variants affecting the gene represented in this entry. Perinatal lethal Gaucher disease is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. {ECO:0000269 PubMed:10352942}.
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:12847165, ECO:0000269 PubMed:16148263, ECO:0000269 PubMed:17620502, ECO:0000269 PubMed:18332251, ECO:0000269 PubMed:19286695, ECO:0000269 PubMed:19846850}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Genatlas disease for GBA Gene

hydrops fetalis

Additional Disease Information for GBA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GBA: view

Publications for GBA Gene

  1. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. (PMID: 19286695) Neumann J … Wood NW (Brain : a journal of neurology 2009) 3 4 22 40 72
  2. Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. (PMID: 18987351) Nichols WC … Parkinson Study Group-PROGENI Investigators (Neurology 2009) 3 22 40 72
  3. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. (PMID: 19846850) Sidransky E … Ziegler SG (The New England journal of medicine 2009) 3 4 22 40
  4. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. (PMID: 18586596) Emre S … Ozen H (European journal of medical genetics 2008) 3 22 40 72
  5. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. (PMID: 18332251) Mata IF … Zabetian CP (Archives of neurology 2008) 3 4 40 72

Products for GBA Gene